Drug Regulation in the Era of Individualized Therapies

Janet Woodcock, M.D., and Peter Marks, M.D., Ph.D. (NEJM)

October 24, 2019

Kim et al., in a report now published in the Journal,1 describe the discovery, development, and administration of an antisense oligonucleotide (ASO) therapy specifically designed for a single patient with CLN7 neuronal ceroid lipofuscinosis (a form of Batten’s disease), a fatal genetic neurodegenerative disorder.2 In this patient, a known pathogenic point mutation was found to be present in one copy of the gene MFSD8 (also known as CLN7), and a previously undescribed insertion of a retrotransposon was present in the other copy. Retrotransposons are stretches of DNA that are sometimes described as mobile elements; thousands are present in the human genome, and some are capable of moving to a new location — such as the middle of a gene — through a “copy and paste” mechanism.

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N Engl J Med 2019; 381:1678-1680

DOI: 10.1056/NEJMe1911295